ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter)

dbSNP: rs397514978
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814891 SCV000955324 pathogenic Tuberous sclerosis 2 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1104*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 27494029). ClinVar contains an entry for this variant (Variation ID: 64972). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
3billion, Medical Genetics RCV000814891 SCV004013510 pathogenic Tuberous sclerosis 2 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with TSC2 related disorder (ClinVar ID: VCV000064972). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Tuberous sclerosis database (TSC2) RCV000055175 SCV000083393 not provided Tuberous sclerosis syndrome no assertion provided curation

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